Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis] Test
Short Name: Beta Thalassemia Trio Analysis
Also known as: HBB Gene Mutation Analysis, Beta Thalassemia Carrier Screening, Prenatal Thalassemia Test
Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis] Test test available at DNA Labs India for ₹18,000. Uses Sanger Sequencing on Amniotic fluid / Chorionic villi / Cord blood / Peripheral blood samples. Results in Reports are typically available within 8-10 days after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of this test is to identify mutations in the HBB gene in both parents and the fetus. It confirms carrier status in parents, assesses the risk of beta thalassemia in the fetus, and provides crucial information for genetic counseling and prenatal management. The test also helps in differentiating beta thalassemia from other hemoglobinopathies and guides treatment decisions if the fetus is affected.
- Test Code
- 6055
- CPT Code
- 81405
- ICD Code
- D56.1
- Price
- ₹18,000
- Sample Type
- Amniotic fluid / Chorionic villi / Cord blood / Peripheral blood
- Result Time
- Reports are typically available within 8-10 days after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Sanger Sequencing
Sample Collection
Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [TRIO ANALYSIS] can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planning to travel abroad. Inform your doctor about any medications or supplements you are taking.
Method: Invasive (amniocentesis/CVS) or blood draw
Laboratory Analysis
For blood samples, a standard venipuncture will be performed. For prenatal samples (amniotic fluid, CVS, or cord blood), the procedure will be done by a qualified gynecologist under ultrasound guidance. Ensure proper identification of all samples.
Report Delivery
No specific precautions are needed after blood collection. For invasive prenatal procedures, follow your doctor's advice regarding rest and monitoring for any complications such as bleeding or leakage of fluid.
Timeline: Reports are typically available within 8-10 days after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to identify mutations in the HBB gene in both parents and the fetus. It confirms carrier status in parents, assesses the risk of beta thalassemia in the fetus, and provides crucial information for genetic counseling and prenatal management. The test also helps in differentiating beta thalassemia from other hemoglobinopathies and guides treatment decisions if the fetus is affected.
How to Prepare
- For blood: Use EDTA vacutainer (2 ml) for both parents.
- For amniotic fluid: Collect in sterile container, minimum 10 ml.
- For chorionic villi: Collect in sterile container with normal saline.
- For cord blood: Collect in EDTA vacutainer (2 ml).
- Label all samples clearly with patient name, relation, and date of collection.
- Transport samples at cool pack (2-8°C) to the laboratory.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Prenatal genetic testing is crucial for couples at risk of beta thalassemia. This trio analysis provides definitive information for reproductive planning and early intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood samples
- Clotted blood samples
- Insufficient sample volume
- Improperly labeled samples
- Samples received after prolonged transit time without proper temperature control
Understanding Your Results
No mutations detected in either parent. Fetus is unlikely to have beta thalassemia.
Low risk; no further action needed.
One parent carries a mutation; fetus has 50% chance of being a carrier.
Carrier status is benign; no disease expected.
Both parents carry mutations; fetus has 25% chance of affected, 50% carrier, 25% unaffected.
High risk; genetic counseling and prenatal management recommended.
Fetus has two pathogenic mutations (homozygous or compound heterozygous).
Beta thalassemia major or intermedia; requires specialized pediatric care.
Consult your doctor or genetic counselor if you have a family history of beta thalassemia, if you are a known carrier, or if you have questions about your reproductive risks. Also, consult if you are pregnant and have been advised this test.
Limitations
- ⚠Sanger sequencing may not detect large deletions or regulatory region mutations
- ⚠Test does not assess alpha thalassemia or other hemoglobinopathies
- ⚠Results require expert interpretation; genetic counseling is recommended
- ⚠Prenatal invasive procedures carry a small risk of miscarriage
Risks & Considerations
- ●For blood draw: minimal risk of bruising or infection
- ●For amniocentesis/CVS: small risk of miscarriage (0.1-0.3%)
- ●For cord blood sampling: rare complications
- ●Emotional stress due to potential results
Interfering Factors
- ●Maternal cell contamination in fetal samples
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion (within 2 weeks) may dilute fetal cells
- ●Rare mutations not covered by standard sequencing panels
Compare With Similar Tests
| Test | Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis] | Hemoglobin Electrophoresis | CBC with RBC Indices | HBB Gene Sequencing (Single) | Preimplantation Genetic Diagnosis (PGD) |
|---|---|---|---|---|---|
| Comparison | Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis] |
Frequently Asked Questions
What is the cost of Beta Thalassemia-HBB Full Gene Analysis (Couple + Prenatal) [Trio Analysis]?
What is the sample type required for this test?
How long does it take to get the results?
Is fasting required before the test?
Who should undergo this test?
What is the accuracy of Sanger sequencing for HBB gene analysis?
Can this test be done during pregnancy?
What does a 'carrier' result mean?
Is home sample collection available?
What is the difference between this trio analysis and a single HBB test?
Are there any risks associated with prenatal sample collection?
How should I prepare for the test?
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₹7,371Reference Laboratory Services
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